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Principe

La technique iDISCO est une méthode alternative à la coupe de cerveau qui permet des immunomarquages sur cerveau entier rendu transparent (Renier N 2014) (Belle M 2014). Nous avons suivi le protocole décrit par Belle et al. (Belle M 2014) (Figure 49).

Après retrait des cerveaux hors de la boîte crânienne et fixation au PFA 4%/PBS, ils ont été incubés 48h sous rotation à température ambiante, dans une solution de PBSGT composée de PBS 1X, 0.2% gélatine (Sigma Aldrich #48723), 0.5% Triton X100 (Sigma Aldrich #X100) et 0.01% Thimerosal (Sigma Aldrich #T5125).

L’anticorps primaire a ensuite été ajouté au 1/200, dans une solution de PBSGT préparée extemporanément. Les échantillons ont été mis sous rotation de 100 rpm à 37°C pendant 7 jours. L’anticorps primaire a ensuite été ajouté au 1:200, dans une solution de PBSGT préparée extemporanément. Les échantillons ont ensuite été mis sous rotation de 100 rpm à 37°C pendant 7 jours. Ils ont ensuite été lavés 6 fois pendant 30 min en PBSGT à température ambiante, puis incubés 7 jours à 37°C avec l’anticorps secondaire au 1:1000 dans du PBSGT. Après 6

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nouveaux lavages de 30 min en PBSGT à température ambiante, l’étape de mise en transparence a été réalisée.

Toute la procédure a été réalisée sous hotte, sur un tube rotator à 14 rpm, avec protection des tubes à la lumière. Les échantillons ont subis des déshydratations successives 50%, 80%, 100% de 90 min chacune, en Tetrahydroflurane (THF, Sigma Aldrich #186562), puis ont été délipidés durant 40 min en Dichlorométhane (Sigma Aldrich #270997), période durant laquelle les échantillons doivent couler au fond du tube.

Les échantillons ont ensuite été conservés à température ambiante dans un récipient en verre sombre, contenant du Dibenzylether (Sigma Aldrich #33630).

Les immunomarquages ont été étudiés en premier lieu sur un microscope confocal (Leica TCS SP2 SE, Allemagne) au CEA-Grenoble. En cas de marquage de bonne qualité, les échantillons ont ensuite été étudiés au microscope à feuille de lumière (Ultramicroscope, LaVision BioTec, Allemagne) en utilisant des lasers 488nm et 588nm sur la plateforme Imagerie de l’Institut de la Vision, Paris.

Les données acquises ont finalement été traitées sur le logiciel Imaris 8, de la société Bitplane.

Anticorps utilisés & spécificité

Tout d’abord, la spécificité de l’anticorps primaire goat anti-collagen IV (#AB769, Merck Millipore) et de son anticorps secondaire Donkey anti-goat conjugué à Alexa488 (#A11055, Life Technologies), ont été vérifiés à 488nm (Figure 49).

Comme montré ci-dessous, l’anticorps détectant le collagen IV génère un signal spécifique (Figure 50).

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Aucun signal n’a été détecté avec l’anticorps secondaire seul, contrairement à son association avec l’anticorps primaire goat anti-collagen IV où le système vasculaire est détecté.

De même, la spécificité de l’anticorps anti-CD31 couplé à la Phycoerythrin (#ab25644 Abcam) a été testée à 543nm. Même si le signal est plus faible que celui du collagen IV utilisé en association pour les doubles immunomarquages, cet anticorps est spécifique (

Figure 51).

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Bibliographie

Ahn HJ, Hernandez CM, Levenson JM, Lubin FD, Liou HC, Sweatt JD. «c-Rel, an NF-kappaB family transcription factor, is required for hippocampal long-term synaptic plasticity and memory formation.» Learn Mem 7, n° 15 (2008): 539-49.

Albensi BC, Mattson MP. «Evidence for the involvement of TNF and NF-kappaB in hippocampal synaptic plasticity.» Synapse 2, n° 35 (2000): 151-9.

Alberts B, Johnson A, Lewis J, Morgan D, Raff M, Roberts K, Walter P. Molecular Biology of

the Cell: sixth edition. Garland science, 2014.

Allen NJ, Barres BA. «Neuroscience: Glia - more than just brain glue.» Nature 2009: 675-7. Alvarez VA, Sabatini BL. «Anatomical and physiological plasticity of dendritic spines.» Annu

Rev Neurosci. 30 (2007): 79-97.

Aradhya S, Bardaro T, Galgóczy P, Yamagata T, Esposito T, Patlan H, Ciccodicola A, Munnich A, Kenwrick S, Platzer M, D'Urso M, Nelson DL. «Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes.» Hum Mol Genet. 10, n° 22 (2001): 2557-67.

Ardley HC, Robinson PA. «E3 ubiquitin ligases.» Essays Biochem 41 (2005): 15-30.

Arnett HA, Mason J, Marino M, Suzuki K, Matsushima GK, Ting JP. «TNF alpha promotes proliferation of oligodendrocyte progenitors and remyelination.» Nat Neurosci. 4, n° 11 (2001): 1116-22.

Baek, KH. «Conjugation and deconjugation of ubiquitin regulating the destiny of proteins.» Exp Mol Med. 1, n° 35 (2003): 1-7.

Baertling F, Kokozidou M, Pufe T, Clarner T, Windoffer R, Wruck CJ, Brandenburg LO, Beyer C, Kipp M. «ADAM12 is expressed by astrocytes during experimental demyelination.» Brain Res. 1326 (2010): 1-14.

Beg AA, Baltimore D. «An essential role for NF-κB in preventing TNF-alpha-induced cell death.» Science 5288, n° 274 (1996): 782–4.

Beg AA, Sha WC, Bronson RT, Ghosh S, Baltimore D. «Embryonic lethality and liver degeneration in mice lacking the RelA component of NF-kappa B.» Nature 6536, n° 376 (1995): 2994–9.

Belle M, Godefroy D, Dominici C, Heitz-Marchaland C, Zelina P, Hellal F, Bradke F, Chédotal A. «A simple method for 3D analysis of immunolabeled axonal tracts in a transparent nervous system.» Cell Rep. 4, n° 9 (2014): 1191-201.

115

Bhakar AL, Tannis LL, Zeindler C, Russo MP, Jobin C, Park DS, MacPherson S, Barker PA. «Constitutive nuclear factor-kappa B activity is required for central neuron survival.» J Neurosci 19, n° 22 (2002): 8466-75.

Blank M, Prinz T. «NF-κB signaling regulates myelination in the CNS.» Front Mol Neurosci. 7, n° 47 (2014): 1-6.

Bliim N, Leshchyns'ka I, Sytnyk V, Janitz M. «Transcriptional regulation of long-term potentiation.» Neurogenetics, in press.

Bloch, B. «Eigentumliche, bisher nicht beschriebene Pigmentaffektion (incontinentia pigmenti).» Schweiz Med Wochenschr 7 (1926): 404-5.

Bodak N, Hadj-Rabia S, Hamel-Teillac D, de Prost Y, Bodemer C. «Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism.» Arch Dermatol. 2, n° 139 (2003): 201-4.

Bodemer, C. «Incontinentia pigmenti and hypomelanosis of Ito.» Handb Clin Neurol 111 (2013): 341-7.

Boksa, P. «Effects of prenatal infection on brain development and behavior: a review of findings from animal models.» Brain Behav Immun 6, n° 24 (2010): 881-97.

Bracchi-Ricard V, Brambilla R, Levenson J, Hu WH, Bramwell A, Sweatt JD, Green EJ, Bethea JR. «Astroglial nuclear factor-kappaB regulates learning and memory and synaptic plasticity in female mice.» J Neurochem 3, n° 104 (2008): 611-23.

Bren GD, Solan NJ, Miyoshi H, Pennington KN, Pobst LJ, Paya CV. «Transcription of the RelB gene is regulated by NF-κB.» Oncogene 20, n° 53 (2001): 7722–33.

Burns SO, Plagnol V, Gutierrez BM, Al Zahrani D, Curtis J, Gaspar M, Hassan A, Jones AM, Malone M, Rampling D, McLatchie A, Doffinger R, Gilmour KC, Henriquez F, Thrasher AJ, Gaspar HB, Nejentsev S. «Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.» J Allergy Clin Immunol 1, n° 134 (2014): 215-8.

Cabannes E, Khan G, Aillet F, Jarrett RF, Hay RT. «Mutations in the IkBa gene in Hodgkin's disease suggest a tumour suppressor role for IkappaBalpha.» Oncogene 20, n° 18 (1999): 3063-70.

Carney, RG. «Incontinentia pigmenti. A world statistical analysis.» Arch Dermatol 112 (1976): 535-542.

116

Chariot, A. «The NF-κB-independent functions of IKK subunits in immunity and cancer.» Trends Cell Biol 8, n° 19 (2009): 404–413.

Chen CJ, Han IC, Tian J, Muñoz B, Goldberg MF. «Extended Follow-up of Treated and Untreated Retinopathy in Incontinentia Pigmenti: Analysis of Peripheral Vascular Changes and Incidence of Retinal Detachment.» JAMA Ophthalmol. 5, n° 133 (2015): 542-8.

Chen MS, Huber AB, van der Haar ME, Frank M, Schnell L, Spillmann AA, Christ F, Schwab ME. «Nogo-A is a myelin-associated neurite outgrowth inhibitor and an antigen for monoclonal antibody IN-1.» Nature 403, n° 6768 (2000): 434-9.

Ciechanover A, Heller H, Elias S, Haas AL, Hershko A. «ATP-dependent conjugation of reticulocyte proteins with the polypeptide required for protein degradation.» Proc Natl Acad Sci U S A. 3, n° 77 (1980): 1365-8.

Clague MJ, Coulson JM, Urbe S. «Cellular functions of the DUBs.» Journal of Cell Science, n° 125 (2012): 277-86.

Clarke A, Phillips DI, Brown R, Harper PS. «Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.» Arch Dis Child 1987: 989-96.

Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV. «Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.» Hum Mutat 2, n° 35 (2014): 165-77.

Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont JP, Munnich A, Smahi A, Steffann J, Fusco F, Ursini MV. «Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.» Hum Mutat 2, n° 35 (2014): 165-77.

Courtois G, Smahi A, Reichenbach J, Doffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fischer A, Israel A, Munnich A, Le Deist F, Casanova JL. «A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.» J Clin Investig, n° 112 (2003): 1108–15.

117

Crampton SJ, O'Keeffe GW. «NF-κB: emerging roles in hippocampal development and function.» Int J Biochem Cell Biol 8, n° 45 (2013): 1821-4.

Delhase M, Hayakawa M, Chen Y, Karin M. «Positive and negative regulation of IkappaB kinase activity through IKKbeta subunit phosphorylation.» Science 284, n° 5412 (1999): 309-13.

Denis-Donini S, Dellarole A, Crociara P, Francese MT, Bortolotto V, Quadrato G, Canonico PL, Orsetti M, Ghi P, Memo M, Bonini SA, Ferrari-Toninelli G, Grilli M. «Impaired adult neurogenesis associated with short-term memory defects in NF-kappaB p50-deficient mice.» J Neurosci 15, n° 28 (2008): 3911-9.

Dickson KM, Bhakar AL, Barker PA. «TRAF6-dependent NF-kB transcriptional activity during mouse development.» Dev Dyn 1, n° 231 (2004): 122-7.

Döffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E,. «X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.» Nat Genet 3, n° 27 (2001): 277-85.

Doi TS, Marino MW, Takahashi T, Yoshida T, Sakakura T, Old LJ, Obata Y. «Absence of tumor necrosis factor rescues RelA-deficient mice from embryonic lethality.» Proc Natl Acad Sci U S A. 6, n° 96 (1999): 2994-9.

Doi TS, Takahashi T, Taguchi O, Azuma T, Obata Y. «NF-kappa B RelA-deficient lymphocytes: normal development of T cells and B cells, impaired production of IgA and IgG1 and reduced proliferative responses.» J Exp Med. 5, n° 185 (1997): 953-61. Duckworth EA, Butler T, Collier L, Collier S, Pennypacker KR. «NF-kappaB protects neurons

from ischemic injury after middle cerebral artery occlusion in mice.» (Brain Res) 1, n° 1088 2006: 167-75.

Edelmann MJ, Iphofer A, Akutsu M, Altun M, di Gleria K, Kramer HB, Fiebiger E, Dhe-Paganon S, Kessler BM. «Structural basis and specificity of human otubain 1-mediated deubiquitination.» The Biochemical journal, n° 418 (2009): 379-90.

Ehlers, MD. «Activity level controls postsynaptic composition and signaling via the ubiquitin-proteasome system.» Nat Neurosci 3, n° 6 (2003): 231-42.

Engelmann C, Haenold R. «Transcriptional Control of Synaptic Plasticity by Transcription Factor NF-κB.» Neural Plast. 2016.

118

Finck A, Van der Meer JW, Schäffer AA, Pfannstiel J, Fieschi C, Plebani A, Webster AD, Hammarström L, Grimbacher B. «Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.» Eur J Hum Genet. 7, n° 14 (2006): 867-75. Fliegauf M, Bryant VL, Frede N, Slade C, Woon ST, Lehnert K, Winzer S, Bulashevska A,

Scerri T, Leung E, Jordan A, Keller B, de Vries E, Cao H, Yang F, Schäffer AA, Warnatz K, Browett P, Douglass J, Ameratunga RV, van der Meer JW, Grimbacher B. «Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.» Am J Hum Genet. 3, n° 97 (2015): 389-403.

Franklin RJ, Ffrench-Constant C. «Remyelination in the CNS: from biology to therapy.» Nat Rev Neurosci. 11, n° 9 (2008): 839-55.

Frederiksen AL, Larsen MJ, Brusgaard K, Novack DV, Knudsen PJ, Schrøder HD, Qiu W, Eckhardt C, McAlister WH, Kassem M, Mumm S, Frost M, Whyte MP. «Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).» J Bone Miner Res. 2015.

Friedman A, Heinemann U. Role of Blood-Brain Barrier Dysfunction in Epileptogenesis. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition, 2012.

Fünfschilling U, Supplie LM, Mahad D, Boretius S, Saab AS, Edgar J, Brinkmann BG, Kassmann CM, Tzvetanova ID, Möbius W, Diaz F, Meijer D, Suter U, Hamprecht B, Sereda MW, Moraes CT, Frahm J, Goebbels S, Nave KA. «Glycolytic oligodendrocytes maintain myelin and long-term axonal integrity.» Nature 7399, n° 485 (2012): 517-21. Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D'Urso M, Ursini MV. «Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.» Hum Mol Genet. 16, n° 13 (2004): 1763-73.

Fusco F, Mercadante V, Miano MG, Ursini MV. «Multiple regulatory regions and tissue-specific transcription initiation mediate the expression of NEMO/IKKgamma gene.» Gene, n° 383 (2006): 99-107.

Fusco F, Paciolla M, Napolitano F, Pescatore A, D'Addario I, Bal E, Lioi MB, Smahi A, Miano MG, Ursini MV. «Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms.» Hum Mol Genet. 6, n° 21 (2012): 1260-71.

119

Fusco F, Paciolla M, Pescatore A, Lioi MB, Ayuso C, Faravelli F, Gentile M, Zollino M, D'Urso M, Miano MG, Ursini MV. «Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.» Hum Mutation 9, n° 30 (2009): 1284-91.

García-Martín P, Hernández-Martín A, Torrelo A. «Ectodermal Dysplasias: A Clinical and Molecular Review.» Actas Dermosifiliogr 2013: 451-70.

Garrod, AE. «Peculiar pigmentation of the skin of an infant.» (Trans Clin Soc Lond), n° 39 (1906): 216.

Gautheron J, Pescatore A, Fusco F, Esposito E, Yamaoka S, Agou F, Ursini MV, Courtois G. «Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology.» Hum Mol Genet. 16, n° 19 (2010): 3138-49.

Gerondakis S, Grumont R, Gugasyan R, Wong L, Isomura I, Ho W, Banerjee A. «Unravelling the complexities of the NF-κB signalling pathway using mouse knockout and transgenic models.» Oncogene 51, n° 25 (2006): 6781–99.

Gutierrez H, Davies AM. «Regulation of neural process growth, elaboration and structural plasticity by NF-κB.» Trends Neurosci 6, n° 36 (2011): 316-25.

Gutierrez H, Hale VA, Dolcet X, Davies A. «NF-kappaB signalling regulates the growth of neural processes in the developing PNS and CNS.» Development 7, n° 132 (2005): 1713-26.

Gutierrez, H, GW O'Keeffe, N Gavaldà, D Gallagher, et AM Davies. «Nuclear factor kappa B signaling either stimulates or inhibits neurite growth depending on the phosphorylation status of p65/RelA.» J Neurosci 33, n° 28 (2008): 8246-56.

Haase A, Frahm J, Matthaei D, Hanicke W, Merboldt KD. «FLASH imaging. Rapid NMR imaging using low flip-angle pulses.» J. of Magnetic Resonance 2, n° 67 (1986): 258-66.

Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, Fraitag S, de Prost Y, Bodemer C. «Clinical study of 40 cases of incontinentia pigmenti.» Arch Dermatol. 9, n° 139 (2003): 1163-70.

Happle, R. «Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue.» Am. J. Med. Genet 79 (1998): 64-5.

Hayden MS, Ghosh S. «Shared principles in NF-kappaB signaling.» Cell 3, n° 132 (2008): 344-62.

120

Hennel SJ, Ekert PG, Volpe JJ, Inder TE. «Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti.» Pediatr Neurol. 2003: 148-50.

Hennig J, Nauerth A, Friedburg H. «RARE imaging - a fast imaging method for clinical MR.» Magn Reson Med 3 (1986): 823-33.

Henson PM, Hume DA. «Apoptotic cell removal in development and tissue homeostasis.» Trends Immunol. 5, n° 27 (2006): 244-50.

Herrmann O, Baumann B, de Lorenzi R, Muhammad S, Zhang W, Kleesiek J, Malfertheiner M, Köhrmann M, Potrovita I, Maegele I, Beyer C, Burke JR, Hasan MT, Bujard H, Wirth T, Pasparakis M, Schwaninger M. «IKK mediates ischemia-induced neuronal death.» Nat. Med 12, n° 11 (2005): 1322-9.

Hershko A, Heller H, Elias S, Ciechanover A. «Components of ubiquitin-protein ligase system. Resolution, affinity purification, and role in protein breakdown.» J Biol Chem. 13, n° 258 (1983): 8206-14.

Hoffmann A, Leung TH, Baltimore D. «Genetic analysis of NF-kappaB/Rel transcription factors defines functional specificities.» EMBO J. 20, n° 22 (2003): 5530-9.

Hu Y, Baud V, Delhase M, Zhang P, Deerinck T, Ellisman M, Johnson R, Karin M. «Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase.» Science 284, n° 5412 (1999): 316-20.

Hu Y, Baud V, Oga T, Kim KI, Yoshida K, Karin M. «IKKalpha controls formation of the epidermis independently of NF-kappaB.» Nature 6829, n° 410 (2001): 710-4.

Imielski Y, Schwamborn JC, Lüningschrör P, Heimann P, Holzberg M, Werner H, Leske O, Püschel AW, Memet S, Heumann R, Israel A, Kaltschmidt C, Kaltschmidt B. «Regrowing the Adult Brain: NF-κB Controls Functional Circuit Formation and Tissue Homeostasis in the Dentate Gyrus.» PLoS One 7, n° 2 (2012): 1-13.

Iwasaki A, Medzhitov R. «Regulation of adaptive immunity by the innate immune system.» Science 5963, n° 327 (2010): 291-5.

Janeway CA Jr, Medzhitov R. «Innate immune recognition.» Annu Rev Immunol., n° 20 (2002): 197-216.

Janssen R, van Wengen A, Hoeve MA, ten Dam M, van der Burg M, van Dongen J, van de Vosse E, van Tol M, Bredius R, Ottenhoff TH, Weemaes C, van Dissel JT, Lankester A. «The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.» The J Exp Med, n° 200 (2004): 559–68.

121

Jean-Baptiste S, O'Toole EA, Chen M, Guitart J, Paller A, Chan LS. «Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti.» Clin Exp Immunol 3, n° 127 (2002): 470-8.

Jurk D, Wilson C, Passos JF, Oakley F, Correia-Melo C, Greaves L, Saretzki G, Fox C, Lawless C, Anderson R, Hewitt G, Pender SL, Fullard N, Nelson G, Mann J, van de Sluis B, Mann DA, von Zglinicki T. «Chronic inflammation induces telomere dysfunction and accelerates ageing in mice.» Nat Commun. 2 (2014): 4172.

Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA. «Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.» Am J Hum Genet. 1, n° 90 (2012): 76-85.

Kaltschmidt B, Kaltschmidt C. «NF-KappaB in Long-Term Memory and Structural Plasticity in the Adult Mammalian Brain.» Front Mol Neurosci. 8, n° 69 (2015).

Kaltschmidt B, Kaltschmidt C. «NF-kappaB in the nervous system.» Cold Spring Harb Perspect Biol. 3, n° 1 (2009): 1-13.

Kaltschmidt B, Uherek M, Volk B, Baeuerle PA, Kaltschmidt C. «Transcription factor NF-κB is activated in primary neurons by amyloid β peptides and in neurons surrounding early plaques from patients with Alzheimer disease.» Proc Natl Acad Sci 6, n° 94 (1997): 2642–7.

Karin M, Ben-Neriah Y. «Phosphorylation meets ubiquitination: the control of NF-[kappa]B activity.» Annu Rev Immunol, n° 18 (2000): 621-63.

Karin M, Cao Y, Greten FR, Li ZW. «NF-kappaB in cancer: from innocent bystander to major culprit.» Nat Rev Cancer. 4, n° 2 (2002): 301-10.

Karin, M. «Nuclear factor-kappaB in cancer development and progression.» Nature 441, n° 7092 (2006): 431-6.

Kawai T, Nishikomori R, Heike T. «Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.» Allergol Int. 2, n° 61 (2012): 207-17.

Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, Greenhalgh L, Whittaker J, Rugolotto S, Bardaro T, Esposito T, D'Urso M, Soli F, Turco A, Smahi A, Hamel-Teillac D, Lyonnet S, Bonnefont JP, Munnich A, Aradhya S, Kashork CD, Shaffer LG, Nelson. «Survival of male patients with incontinentia pigmenti carrying a lethal

122

mutation can be explained by somatic mosaicism or Klinefelter syndrome.» Am J Hum Genet. 6, n° 69 (2001): 1210-7.

Keusekotten K, Elliott PR, Glockner L, Fiil BK, Damgaard RB, Kulathu Y, Wauer T, Hospenthal MK, Gyrd-Hansen M, Krappmann D. «OTULIN antagonizes LUBAC signaling by specifically hydrolyzing Met1-linked polyubiquitin.» Cell 6, n° 153 (2013): 1312–26.

Klement JF, Rice NR, Car BD, Abbondanzo SJ, Powers GD, Bhatt PH, Chen CH, Rosen CA, Stewart CL. «IkBa deficiency results in a sustained NF-kB response and severe widespread dermatitis in mice.» Mol Cell Biol. 5, n° 16 (1996): 2341-9.

Komander D, Clague MJ, Urbe S. «Breaking the chains: structure and function of the deubiquitinases.»(Nature reviews. Molecular cell biology., n° 10 (2009): 550-63. Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima

RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C. «Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.» Nat Genet 2, n° 32 (2002): 285-9.

Koo JW, Russo SJ, Ferguson D, Nestler EJ, Duman RS. «Nuclear factor-kappaB is a critical mediator of stress-impaired neurogenesis and depressive behavior.» Proc Natl Acad Sci U S A. 6, n° 107 (2010): 2669-74.

Körbelin J, Dogbevia G, Michelfelder S, Ridder DA, Hunger A, Wenzel J, Seismann H, Lampe M, Bannach J, Pasparakis M, Kleinschmidt JA, Schwaninger M, Trepel M. «A brain microvasculature endothelial cell-specific viral vector with the potential to treat neurovascular and neurological diseases.» EMBO Mol Med., 2016: 609-25.

Kovalenko A, Chable-Bessia C, Cantarella G, Israël A, Wallach D, Courtois G. «The tumour suppressor CYLD negatively regulates NF-κB signalling by deubiquitination.» Nature 6950, n° 424 (2003): 801–805.

Kremer D, Aktas O, Hartung HP, Küry P. «The complex world of oligodendroglial differentiation inhibitors.» Ann Neurol. 4, n° 69 (2011): 602-18.

Kretz A, Herrmann KH, Fischer S, Engelmann C, Witte OW, Reichenbach JR, Weih F, Haenold R. «Dysfunctional NF-κB and brain myelin formation.» Eur J Hum Genet. 6, n° 22 (2014): 724-5.

123

Kuester F, Olbing H. «Incontinentia Pigmenti. Report of nine cases in one family and one necrospy investigation.» Ann Paediatr 202 (1964): 92-100.

Kumari S, Bonnet MC, Ulvmar MH, Wolk K, Karagianni N, Witte E, Uthoff-Hachenberg C, Renauld JC, Kollias G, Toftgard R, Sabat R, Pasparakis M, Haase I. «Tumor necrosis factor receptor signaling in keratinocytes triggers interleukin-24-dependent psoriasis-like skin inflammation in mice.» Immunity 5, n° 39 (2013): 899-911.

Kyrargyri V, Vega-Flores G, Gruart A, Delgado-García JM, Probert L. «Differential contributions of microglial and neuronal IKKβ to synaptic plasticity and associative learning in alert behaving mice.» Glia 4, n° 63 (2015): 549-66.

Lahtela J, Nousiainen HO, Stefanovic V, Tallila J, Viskari H, Karikoski R, Gentile M, Saloranta C, Varilo T, Salonen R, Kestilä M. «Mutant CHUK and severe fetal encasement malformation.» N Engl J Med 17, n° 363 (2010): 1631-7.

Landy SJ, Donnai D. «Incontinentia pigmenti (Bloch-Sulzberger syndrome).» J Med Genet 30 (1993): 53-59.

Lawrence T, Fong C. «The resolution of inflammation: anti-inflammatory roles for NF-kappaB.» (Int J Biochem Cell Biol.) 4, n° 42 (2010): 519-23.

Ledoux AC, Perkins ND. «NF-κB and the cell cycle.» Biochem Soc Trans. 1, n° 42 (2014): 76-81.

Leslie EJ, O'Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch'ng GS, van der Laar IM, Hoogeboom AJ, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ. «Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.» Am J Med Genet A 3, n° 167A (2015): 545-52.

Li Q, Estepa G, Memet S, Israel A, Verma IM. «Complete lack of NF-kappaB activity in IKK1 and IKK2 double-deficient mice: additional defect in neurulation.» Genes Dev. 14, n° 14 (2000): 1729-33.

Li Q, Van Antwerp D, Mercurio F, Lee KF, Verma IM. «Severe liver degeneration in mice lacking the IkappaB kinase 2 gene.» Science 5412, n° 284 (1999): 321-5.

Li X, Liu H, Fischhaber PL, Tang TS. «Toward therapeutic targets for SCA3: Insight into the role of Machado-Joseph disease protein ataxin-3 in misfolded proteins clearance.» Prog Neurobiol, n° 132 (2015): 34-58.

124

Lilienbaum A, Israël A. «From calcium to NF-kappa B signaling pathways in neurons.» Mol Cell Biol. 8, n° 23 (2003): 2680-98.

Liu H, Deng Y, Gao J, Liu Y, Li W, Shi J, Gong Q. «Sodium Hydrosulfide Attenuates Beta-Amyloid-Induced Cognitive Deficits and Neuroinflammation via Modulation of MAPK/NF-κB Pathway in Rats.» Curr Alzheimer Res. 7, n° 12 (2015): 673-683. Liu X, Popescu IR, Denisova JV, Neve RL, Corriveau RA, Belousov AB. «Regulation of

cholinergic phenotype in developing neurons.» J Neurophysiol. 5, n° 99 (2008): 2443-55.

Loh NR, Jadresic LP, Whitelaw A. «A genetic cause for neonatal encephalopathy: incontinentia